Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility.

Gustavo Rodrigues Ferreira Gomes,Tamiris Carneiro Mariano,Vitor Lucas Lopes Braga,Erlane Marques Ribeiro,Ingred Pimentel Guimarães,Késia Sindy Alves Ferreira Pereira,Paulo Ribeiro Nóbrega,André Luiz Santos Pessoa

Brain sciences（2023）

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摘要

We seek to highlight the need for screening for CMYP13 in patients expressing the typical phenotype of the disease even in the absence of Lumbee Native American ancestry, and to raise awareness to possible complications like malignant hyperthermia in Bailey-Bloch congenital myopathy.

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关键词

Bailey-Bloch congenital myopathy,CMYP13,Native American myopathy,STAC3,congenital myopathy,genetic disorders

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